FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024876564> ?p ?o ?g. }

• W2024876564 endingPage "531" @default.
• W2024876564 startingPage "530" @default.
• W2024876564 abstract "Clinical GeneticsVolume 70, Issue 6 p. 530-531 A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1 Y Chunshu, Y Chunshu University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiSearch for more papers by this authorK Endoh, K Endoh University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiSearch for more papers by this authorM Soutome, M Soutome University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiSearch for more papers by this authorR Kawamura, R Kawamura Hiroshima-city Center for Handicapped Children, Division of Pediatrics, Hiroshima, Hiroshima, JapanSearch for more papers by this authorT Kubota, Corresponding Author T Kubota University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiTakeo KubotaShimokato 1110, Chuo-cityYamanashi 409-3898JapanTel.: +81 55 273 9557Fax: +81 55 273 9561e-mail: [email protected]Search for more papers by this author Y Chunshu, Y Chunshu University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiSearch for more papers by this authorK Endoh, K Endoh University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiSearch for more papers by this authorM Soutome, M Soutome University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiSearch for more papers by this authorR Kawamura, R Kawamura Hiroshima-city Center for Handicapped Children, Division of Pediatrics, Hiroshima, Hiroshima, JapanSearch for more papers by this authorT Kubota, Corresponding Author T Kubota University of Yamanashi, Department of Epigenetic Medicine, Chuo, YamanashiTakeo KubotaShimokato 1110, Chuo-cityYamanashi 409-3898JapanTel.: +81 55 273 9557Fax: +81 55 273 9561e-mail: [email protected]Search for more papers by this author First published: 17 October 2006 https://doi.org/10.1111/j.1399-0004.2006.00712.xCitations: 23Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1 Amir RE, Fang P, Yu Z et al. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 2005: 42: e15. 2 Kriaucionis S, Bird A. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 2004: 32: 1818–1823. 3 Mnatzakanian GN, Lohi H, Munteanu I et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004: 36: 339–341. 4 Ravn K, Nielsen JB, Schwartz M. Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. Clin Genet 2005: 67: 532–533. 5 Bartholdi D, Klein A, Weissert M et al. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clin Genet 2006: 69: 319–326. 6 Philippe C, Villard L, De Roux N et al. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. Eur J Hum Genet 2006: 49: 9–18. 7 Kubota T, Nonoyama S, Tonoki H. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet 1999: 104: 49–55. 8 Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet 2002: 111: 164–168. 9 Saxena A, De Lagarde D, Leonard H et al. Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. J Med Genet 2006: 43: 470–477. 10 Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum Mol Genet. 2005: 14: 1049–1058. 11 Watson P, Black G, Ramsden S et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 2001: 38: 224–228. Citing Literature Volume70, Issue6December 2006Pages 530-531 ReferencesRelatedInformation" @default.
• W2024876564 created "2016-06-24" @default.
• W2024876564 creator A5000783640 @default.
• W2024876564 creator A5030369633 @default.
• W2024876564 creator A5033193039 @default.
• W2024876564 creator A5064660530 @default.
• W2024876564 creator A5088655966 @default.
• W2024876564 date "2006-10-17" @default.
• W2024876564 modified "2023-09-27" @default.
• W2024876564 title "A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1" @default.
• W2024876564 cites W2035488976 @default.
• W2024876564 cites W2053235668 @default.
• W2024876564 cites W2084301939 @default.
• W2024876564 cites W2090815083 @default.
• W2024876564 cites W2112193800 @default.
• W2024876564 cites W2121799995 @default.
• W2024876564 cites W2141434965 @default.
• W2024876564 cites W2161403252 @default.
• W2024876564 cites W2267254074 @default.
• W2024876564 doi "https://doi.org/10.1111/j.1399-0004.2006.00712.x" @default.
• W2024876564 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17101000" @default.
• W2024876564 hasPublicationYear "2006" @default.
• W2024876564 type Work @default.
• W2024876564 sameAs 2024876564 @default.
• W2024876564 citedByCount "28" @default.
• W2024876564 countsByYear W20248765642012 @default.
• W2024876564 countsByYear W20248765642013 @default.
• W2024876564 countsByYear W20248765642014 @default.
• W2024876564 countsByYear W20248765642015 @default.
• W2024876564 countsByYear W20248765642017 @default.
• W2024876564 countsByYear W20248765642018 @default.
• W2024876564 countsByYear W20248765642019 @default.
• W2024876564 countsByYear W20248765642021 @default.
• W2024876564 crossrefType "journal-article" @default.
• W2024876564 hasAuthorship W2024876564A5000783640 @default.
• W2024876564 hasAuthorship W2024876564A5030369633 @default.
• W2024876564 hasAuthorship W2024876564A5033193039 @default.
• W2024876564 hasAuthorship W2024876564A5064660530 @default.
• W2024876564 hasAuthorship W2024876564A5088655966 @default.
• W2024876564 hasBestOaLocation W20248765641 @default.
• W2024876564 hasConcept C104317684 @default.
• W2024876564 hasConcept C127716648 @default.
• W2024876564 hasConcept C161191863 @default.
• W2024876564 hasConcept C2778863441 @default.
• W2024876564 hasConcept C41008148 @default.
• W2024876564 hasConcept C41091548 @default.
• W2024876564 hasConcept C54355233 @default.
• W2024876564 hasConcept C86803240 @default.
• W2024876564 hasConceptScore W2024876564C104317684 @default.
• W2024876564 hasConceptScore W2024876564C127716648 @default.
• W2024876564 hasConceptScore W2024876564C161191863 @default.
• W2024876564 hasConceptScore W2024876564C2778863441 @default.
• W2024876564 hasConceptScore W2024876564C41008148 @default.
• W2024876564 hasConceptScore W2024876564C41091548 @default.
• W2024876564 hasConceptScore W2024876564C54355233 @default.
• W2024876564 hasConceptScore W2024876564C86803240 @default.
• W2024876564 hasIssue "6" @default.
• W2024876564 hasLocation W20248765641 @default.
• W2024876564 hasLocation W20248765642 @default.
• W2024876564 hasOpenAccess W2024876564 @default.
• W2024876564 hasPrimaryLocation W20248765641 @default.
• W2024876564 hasRelatedWork W1991523530 @default.
• W2024876564 hasRelatedWork W2002128513 @default.
• W2024876564 hasRelatedWork W2019241139 @default.
• W2024876564 hasRelatedWork W2090570866 @default.
• W2024876564 hasRelatedWork W2432077766 @default.
• W2024876564 hasRelatedWork W2946942819 @default.
• W2024876564 hasRelatedWork W3122980896 @default.
• W2024876564 hasRelatedWork W4310701073 @default.
• W2024876564 hasRelatedWork W4321373396 @default.
• W2024876564 hasRelatedWork W2092874662 @default.
• W2024876564 hasVolume "70" @default.
• W2024876564 isParatext "false" @default.
• W2024876564 isRetracted "false" @default.
• W2024876564 magId "2024876564" @default.
• W2024876564 workType "article" @default.